[30991390]
This is in regards to the panorama nipt screening test. This is my story: the only screening we chose to do in my pregnancy was originally the nipt trisomy 13, 18 and 21. When we received the form for the nipt, i checked off the microdeletion test boxes thinking "why not? ", well now i know why i would never check off those boxes again. The test results came back fine for trisomy 13/18/21 but with "high risk" (1 in 19 chance) for digeorge microdeletion 22q11. I was very stressed about this result and we decided to have the amnio after having met with a genetics counselor. The first thing she said was that she tells all people she's counseling to not get the microdeletion tests which have a (b)(4) false positive rate. In my research (after i had the test), i also saw a post by an obgyn who said they do not allow these microdeletion tests to be done in their clinic - only trisomy. It is ridiculous that this test can even go to the market. The amnio went well and it took 10 days for the microdeletion tests to come in. I received the call and it turns out it was yet another false positive. This was a very traumatic experience. After all my research, i would never have the microdeletion nipt test again, nor do i feel it should be offered with such a low rate of accuracy.
Patient Sequence No: 1, Text Type: D, B5